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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
CDK2AP1 - Cyclin Dependent Kinase 2 Associated Protein 1
Alias:
DOC1
ST19
DORC1
doc-1
p12DOC-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种与细胞周期蛋白依赖的激酶2(CDK2)相关的蛋白质,被认为通过隔离单体CDK2并使其成为蛋白水解的靶点,从而负调控CDK2的活性。该蛋白质还发现与DNA聚合酶α/primase相互作用,并介导对大型p180亚基的磷酸化,这表明在细胞周期的S期在DNA复制中具有调节作用。该蛋白质还形成核小体重塑和组蛋白脱乙酰化(NURD)复合体的核心亚单位,该复合体表观地调节胚胎干细胞的分化。因此,这个基因在细胞周期和表观遗传调控中发挥作用。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq,2012年7月提供]
Related ID:
NCBI:8099
ENSEMBL:ENSG00000111328
HGNC:14002
UNIPROT:O14519
OMIM:602198
Basic Information
NCBI
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Exons
Length
MW (kDa)
Mutations
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Reference
8099
3
4
11265 bp
12.37
5
--
3
10
CDK2AP1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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